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Journal articles on the topic 'SITE MUTATION'

Author: Grafiati

Published: 11 September 2023

Last updated: 31 July 2025

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1

Ozdemir, D., P. S. Hart, O. H. Ryu, et al. "MMP20 Active-site Mutation in Hypomaturation Amelogenesis Imperfecta." Journal of Dental Research 84, no. 11 (2005): 1031–35. http://dx.doi.org/10.1177/154405910508401112.

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The Amelogenesis Imperfecta (AI) are a group of clinically and genetically heterogeneous disorders that affect enamel formation. To date, mutations in 4 genes have been reported in various types of AI. Mutations in the genes encoding the 2 enamel proteases, matrix metalloproteinase 20 ( MMP20) and kallikrein 4 ( KLK4), have each been reported in a single family segregating autosomal-recessive hypomaturation AI. To determine the frequency of mutations in these genes, we analyzed 15 Turkish probands with autosomal-recessive hypomaturation AI for MMP20 and KLK4 gene mutations. No KLK4 mutations w

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Bianchi, F., S. Rosati, L. Belvederesi, et al. "MSH2 splice site mutation and endometrial cancer." International Journal of Gynecologic Cancer 16, no. 3 (2006): 1419–23. http://dx.doi.org/10.1136/ijgc-00009577-200605000-00072.

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Hereditary nonpolyposis colorectal cancer (HNPCC) is an inherited syndrome of cancer susceptibility caused by germ line mutations of genes participating in mismatch repair (MMR). Carriers of MMR gene mutations have an increased risk of colorectal cancers and cancer of other organs. Tumors of the endometrium represent the most frequent extracolonic malignancies in HNPCC. It has been suggested that women harboring MMR gene mutations have a higher risk of endometrial cancer than of colon cancer. Here, we describe an HNPCC patient with early-onset endometrial cancer and a strong familial history o

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Agosto, Melina A., Jason K. Middleton, Elaine C. Freimont, John Yin та Max L. Nibert. "Thermolabilizing Pseudoreversions in Reovirus Outer-Capsid Protein μ1 Rescue the Entry Defect Conferred by a Thermostabilizing Mutation". Journal of Virology 81, № 14 (2007): 7400–7409. http://dx.doi.org/10.1128/jvi.02720-06.

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ABSTRACT Heat-resistant mutants selected from infectious subvirion particles of mammalian reoviruses have determinative mutations in the major outer-capsid protein μ1. Here we report the isolation and characterization of intragenic pseudoreversions of one such thermostabilizing mutation. From a plaque that had survived heat selection, a number of viruses with one shared mutation but different second-site mutations were isolated. The effect of the shared mutation alone or in combination with second-site mutations was examined using recoating genetics. The shared mutation, D371A, was found to co

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4

Yamazaki, Tomio, Akira Katsumi, Yoshihiro Okamoto, et al. "Two Distinct Novel Splice Site Mutations in a Compound Heterozygous Patient with Protein S Deficiency." Thrombosis and Haemostasis 77, no. 01 (1997): 014–20. http://dx.doi.org/10.1055/s-0038-1655729.

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SummaryGenetic analysis revealed two distinct novel splice site mutations in a compound heterozygous patient with protein S deficiency. The paternal mutation was a G-to-T transition at position -1 of the acceptor splice site of intron N (Mutation I), and the maternal mutation was a G-to-C transversion at position -1 of the donor splice site of intron C (Mutation II). Both splice site mutations decreased the mutated mRNA accumulation to the same extent, approximately 40% of the normal mRNA. However, the mutations were associated with different phenotypical expressions: the paternal mutant prote

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5

Chattopadhyay, Maitreyi, Vera A. Stupina, Feng Gao, et al. "Requirement for Host RNA-Silencing Components and the Virus-Silencing Suppressor when Second-Site Mutations Compensate for Structural Defects in the 3′ Untranslated Region." Journal of Virology 89, no. 22 (2015): 11603–18. http://dx.doi.org/10.1128/jvi.01566-15.

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ABSTRACTTurnip crinkle virus (TCV) contains a structured 3′ region with hairpins and pseudoknots that form a complex network of noncanonical RNA:RNA interactions supporting higher-order structure critical for translation and replication. We investigated several second-site mutations in the p38 coat protein open reading frame (ORF) that arose in response to a mutation in the asymmetric loop of a critical 3′ untranslated region (UTR) hairpin that disrupts local higher-order structure. All tested second-site mutations improved accumulation of TCV in conjunction with a partial reversion of the pri

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Wang, Zhihong, Yanhong Lin, Liping Qiu, et al. "Hybrid minigene splicing assay verified the pathogenicity of a novel splice site variant in the dystrophin gene of a Chinese patient with typical Duchenne muscular dystrophy phenotype." Clinical Chemistry and Laboratory Medicine (CCLM) 54, no. 9 (2016): 1435–40. http://dx.doi.org/10.1515/cclm-2015-1042.

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AbstractBackground:Duchenne muscular dystrophy (DMD) is typically caused by disrupting the reading frame of the dystrophin gene: approximately 70%–80% of mutational events are represented by deletions or duplications of one or more exons in the dystrophin gene, and the remaining cases by subtle mutations, including point mutations, small indels, small inversions, and complex small rearrangements. The dystrophin gene is the largest known gene with one of the highest known rates of new mutations.Methods:Deletions and duplications were detected in theDMDgene of the proband by using multiple ligat

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Cook, Jonathan, Elizabeth de Wolf, and Nicholas Dale. "Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro." Royal Society Open Science 6, no. 8 (2019): 191128. http://dx.doi.org/10.1098/rsos.191128.

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The Cx26 mRNA has not been reported to undergo alternative splicing. In expressing a series of human keratitis ichthyosis deafness (KID) syndrome mutations of Cx26 (A88V, N14K and A40V), we found the production of a truncated mRNA product. These mutations, although not creating a cryptic splice site, appeared to activate a pre-existing cryptic splice site. The alternative splicing of the mutant Cx26 mRNA could be prevented by mutating the predicted 3′, 5′ splice sites and the branch point. The presence of a C-terminal fluorescent protein tag (mCherry or Clover) was necessary for this alternati

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Joseph, Ranjit, Paul Little, David N. Hayes, and Michael Sangmin Lee. "Characterization of the number and site of APC mutations in sporadic colorectal cancer." Journal of Clinical Oncology 35, no. 4_suppl (2017): 630. http://dx.doi.org/10.1200/jco.2017.35.4_suppl.630.

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630 Background: Truncating mutations in the adenomatous polyposis coli ( APC) gene are well-described events in the carcinogenesis of colorectal carcinomas (CRC) and may impact one or both APC alleles. These aberrations often fall within the mutation cluster region (MCR) of the APC gene to preserve a “just right” number of beta-catenin binding sites in the resulting mutant APC protein. Further clinical and genotypic characterization of CRCs based on number and site of mutations in APC determined using modern next generation sequencing methods is needed. Methods: Next generation sequencing of 7

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Bauer, C. E., J. F. Gardner, R. I. Gumport, and R. A. Weisberg. "The effect of attachment site mutations on strand exchange in bacteriophage lambda site-specific recombination." Genetics 122, no. 4 (1989): 727–36. http://dx.doi.org/10.1093/genetics/122.4.727.

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Abstract Recombination of phage lambda attachment sites occurs by sequential exchange of the DNA strands at two specific locations. The first exchange produces a Holliday structure, and the second resolves it to recombinant products. Heterology for base substitution mutations in the region between the two strand exchange points (the overlap region) reduces recombination; some mutations inhibit the accumulation of Holliday structures, others inhibit their resolution to recombinant products. To see if heterology also alters the location of the strand exchange points, we determined the segregatio

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Ito, Kiyoaki, Yanli Qin, Michael Guarnieri, et al. "Impairment of Hepatitis B Virus Virion Secretion by Single-Amino-Acid Substitutions in the Small Envelope Protein and Rescue by a Novel Glycosylation Site." Journal of Virology 84, no. 24 (2010): 12850–61. http://dx.doi.org/10.1128/jvi.01499-10.

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ABSTRACT Mutations in the S region of the hepatitis B virus (HBV) envelope gene are associated with immune escape, occult infection, and resistance to therapy. We previously identified naturally occurring mutations in the S gene that alter HBV virion secretion. Here we used transcomplementation assay to confirm that the I110M, G119E, and R169P mutations in the S domain of viral envelope proteins impair virion secretion and that an M133T mutation rescues virion secretion of the I110M and G119E mutants. The G119E mutation impaired detection of secreted hepatitis B surface antigen (HBsAg), sugges

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Guo, Wenting, Bo Sun, John Paul Estillore, Ruiwu Wang, and S. R. Wayne Chen. "The central domain of cardiac ryanodine receptor governs channel activation, regulation, and stability." Journal of Biological Chemistry 295, no. 46 (2020): 15622–35. http://dx.doi.org/10.1074/jbc.ra120.013512.

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Structural analyses identified the central domain of ryanodine receptor (RyR) as a transducer converting conformational changes in the cytoplasmic platform to the RyR gate. The central domain is also a regulatory hub encompassing the Ca2+-, ATP-, and caffeine-binding sites. However, the role of the central domain in RyR activation and regulation has yet to be defined. Here, we mutated five residues that form the Ca2+ activation site and 10 residues with negatively charged or oxygen-containing side chains near the Ca2+ activation site. We also generated eight disease-associated mutations within

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Claes, Kathleen, Eva Machackova, Michel De Vos, Bruce Poppe, Anne De Paepe, and Ludwine Messiaen. "Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G." Disease Markers 15, no. 1-3 (1999): 69–73. http://dx.doi.org/10.1155/1999/241046.

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Since the identification of the BRCA1 and BRCA2 genes, several hundred different germline mutations in both genes have been reported. Recurrent mutations are rare and mainly due to founder effects. As the mutational spectrum of the BRCA1 and BRCA2 genes in the Belgian patient population is largely unknown, we initiated mutation analysis for the complete coding sequence of both genes in Belgian families with multiple breast and/or ovarian cancer patients and in “sporadic” patients with early onset disease. We completed the analysis in 49 families and in 19 “sporadic” female patients with early

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Yu, Yongfeng, Rongrong Chen, Jun Zhao, Xin Yi, and Shun Lu. "Analysis of canonical and noncanonical splicing site mutation of MET that causes exon 14 skipping." Journal of Clinical Oncology 38, no. 15_suppl (2020): e21513-e21513. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e21513.

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e21513 Background: The hepatocyte growth factor receptor gene ( MET) exon 14 skipping ( METex14) has been wildly accepted as a driver alteration in lung cancer targetable by tyrosine kinase inhibitors (TKIs) such as crizotinib. While it is easy to interpret canonical splicing site mutations, it is more controversial to interpret noncanonical splicing site mutations. Methods: Hybrid capture–based next generation sequencing of 59-1021 genes including MET was performed at the request of individual treating physicians. The mutation profiling of MET were retrospectively analyzed. Results: Of 3500 l

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Bebenek, Anna, Geraldine T. Carver, Holly Kloos Dressman, et al. "Dissecting the Fidelity of Bacteriophage RB69 DNA Polymerase: Site-Specific Modulation of Fidelity by Polymerase Accessory Proteins." Genetics 162, no. 3 (2002): 1003–18. http://dx.doi.org/10.1093/genetics/162.3.1003.

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Abstract Bacteriophage RB69 encodes a replicative B-family DNA polymerase (RB69 gp43) with an associated proofreading 3′ exonuclease. Crystal structures have been determined for this enzyme with and without DNA substrates. We previously described the mutation rates and kinds of mutations produced in vivo by the wild-type (Pol+ Exo+) enzyme, an exonuclease-deficient mutator variant (Pol+ Exo-), mutator variants with substitutions at Tyr567 in the polymerase active site (PolM Exo+), and the double mutator PolM Exo-. Comparing the mutational spectra of the Pol+ Exo- and Pol+ Exo+ enzymes revealed

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Neinavaie, Fargam, and Andrew Kramer. "Abstract A038: Does mutation rate of cancer cells change as the stage of the disease advances?" Cancer Research 82, no. 10_Supplement (2022): A038. http://dx.doi.org/10.1158/1538-7445.evodyn22-a038.

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Abstract Tumorigenesis begins with cells that have normal mutation rates. As the cells become immortal and accumulate different numbers of mutations along the way, current literature splits in two describing if and how mutation rates increase as the cancer progresses. Some argue that as the mutation rates are small (mutation rate in healthy cells is per nucleotide site per cell division) and malignant cells are loaded with thousands of different types of mutations, they must have acquired a mutator phenotype early in their development. Others argue that immortality of malignant cells, and thei

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Lin, Wen-Ying, Kang-Yang Jih, and Tzyh-Chang Hwang. "A single amino acid substitution in CFTR converts ATP to an inhibitory ligand." Journal of General Physiology 144, no. 4 (2014): 311–20. http://dx.doi.org/10.1085/jgp.201411247.

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Cystic fibrosis (CF), one of the most common lethal genetic diseases, is caused by loss-of-function mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a chloride channel that, when phosphorylated, is gated by ATP. The third most common pathogenic mutation, a glycine-to-aspartate mutation at position 551 or G551D, shows a significantly decreased open probability (Po) caused by failure of the mutant channel to respond to ATP. Recently, a CFTR-targeted drug, VX-770 (Ivacaftor), which potentiates G551D-CFTR function in vitro by boosting its Po, has been

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Lee, Ye Ji, Yejin Lee, Youn Jung Kim, Zang Hee Lee, and Jung-Wook Kim. "Novel PAX9 Mutations Causing Isolated Oligodontia." Journal of Personalized Medicine 14, no. 2 (2024): 191. http://dx.doi.org/10.3390/jpm14020191.

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Hypodontia, i.e., missing one or more teeth, is a relatively common human disease; however, oligodontia, i.e., missing six or more teeth, excluding the third molars, is a rare congenital disorder. Many genes have been shown to cause oligodontia in non-syndromic or syndromic conditions. In this study, we identified two novel PAX9 mutations in two non-syndromic oligodontia families. A mutational analysis identified a silent mutation (NM_006194.4: c.771G>A, p.(Gln257=)) in family 1 and a frameshift mutation caused by a single nucleotide duplication (c.637dup, p.(Asp213Glyfs*104)) in family 2.

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Natarajan, Chandrasekhar, Agnieszka Jendroszek, Amit Kumar, et al. "Molecular basis of hemoglobin adaptation in the high-flying bar-headed goose." PLOS Genetics 14, no. 4 (2018): e1007331. https://doi.org/10.5281/zenodo.14815678.

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(Uploaded by Plazi for the Bat Literature Project) During the adaptive evolution of a particular trait, some selectively fixed mutations may be directly causative and others may be purely compensatory. The relative contribution of these two classes of mutation to adaptive phenotypic evolution depends on the form and prevalence of mutational pleiotropy. To investigate the nature of adaptive substitutions and their pleiotropic effects, we used a protein engineering approach to characterize the molecular basis of hemoglobin (Hb) adaptation in the high-flying bar-headed goose (Anser indicus), a hy

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Doward, W., R. Perveen, I. C. Lloyd, A. E. A. Ridgway, L. Wilson, and G. C. M. Black. "A mutation in the RIEG1 gene associated with Peters’ anomaly." Journal of Medical Genetics 36, no. 2 (1999): 152–55. http://dx.doi.org/10.1136/jmg.36.2.152.

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Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3′ splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters’ anomaly. The mutation is a single base substition of A to T at the invariant -2 site of the 3′ splice site. Peters’ anomaly, which is characterised by ocular anterior segment dysgenesis and central corneal opacification, is distinct from Rieger anomaly. This is the first description of a RIEG1 mutation associated with Peters’ anomaly.

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Yang, Zhi, Priyatama Pandey, Darryl Shibata, David V. Conti, Paul Marjoram, and Kimberly D. Siegmund. "HiLDA: a statistical approach to investigate differences in mutational signatures." PeerJ 7 (August 28, 2019): e7557. http://dx.doi.org/10.7717/peerj.7557.

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We propose a hierarchical latent Dirichlet allocation model (HiLDA) for characterizing somatic mutation data in cancer. The method allows us to infer mutational patterns and their relative frequencies in a set of tumor mutational catalogs and to compare the estimated frequencies between tumor sets. We apply our method to two datasets, one containing somatic mutations in colon cancer by the time of occurrence, before or after tumor initiation, and the second containing somatic mutations in esophageal cancer by sex, age, smoking status, and tumor site. In colon cancer, the relative frequencies o

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Kraut, Daniel A., Paul A. Sigala, Timothy D. Fenn, and Daniel Herschlag. "Dissecting the paradoxical effects of hydrogen bond mutations in the ketosteroid isomerase oxyanion hole." Proceedings of the National Academy of Sciences 107, no. 5 (2010): 1960–65. http://dx.doi.org/10.1073/pnas.0911168107.

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The catalytic importance of enzyme active-site interactions is frequently assessed by mutating specific residues and measuring the resulting rate reductions. This approach has been used in bacterial ketosteroid isomerase to probe the energetic importance of active-site hydrogen bonds donated to the dienolate reaction intermediate. The conservative Tyr16Phe mutation impairs catalysis by 105-fold, far larger than the effects of hydrogen bond mutations in other enzymes. However, the less-conservative Tyr16Ser mutation, which also perturbs the Tyr16 hydrogen bond, results in a less-severe 102-fold

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Park, S., B. Park, I. Hwang, et al. "Comparison of the epidermal growth factor receptor gene mutation in matched primary tumor and lymph node metastasis of non-small cell lung cancer." Journal of Clinical Oncology 25, no. 18_suppl (2007): 7614. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.7614.

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7614 Background: Mutations in epidermal growth factor receptor (EGFR) are considered as a strong predictive marker to EGFR tyrosine kinase inhibitors (TKIs) in non-small-cell lung cancer (NSCLC). Recent studies suggested EGFR status may change between primary NSCLC and corresponding metastatic site. However, it has not fully been evaluated whether EGFR mutation differs in metastases compared to primary NSCLC. Methods: In total, 128 tumor samples from 64 NSCLC patients were investigated comparing matched 64 primary tumors, and 64 lymph node metastases. The epidermal growth factor receptor mutat

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Lee, Ye Ji, Youn Jung Kim, Wonseon Chae, Seon Hee Kim, and Jung-Wook Kim. "EDA Mutations Causing X-Linked Recessive Oligodontia with Variable Expression." Genes 16, no. 1 (2024): 12. https://doi.org/10.3390/genes16010012.

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Background/Objectives: The ectodysplasin A (EDA) gene, a member of the tumor necrosis factor ligand superfamily, is involved in the early epithelial–mesenchymal interaction that regulates ectoderm-derived appendage formation. Numerous studies have shown that mutations in the EDA gene can cause X-linked ectodermal dysplasia (ED) and non-syndromic oligodontia (NSO). Accordingly, this study aimed to identify the causative genetic mutations of the EDA gene. Methods: We investigated EDA gene mutations in two X-linked oligodontia families using candidate gene sequencing and whole-exome sequencing, w

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Moir, Robyn D., Karen V. Puglia, and Ian M. Willis. "A Gain-of-Function Mutation in the Second Tetratricopeptide Repeat of TFIIIC131 Relieves Autoinhibition of Brf1 Binding." Molecular and Cellular Biology 22, no. 17 (2002): 6131–41. http://dx.doi.org/10.1128/mcb.22.17.6131-6141.2002.

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ABSTRACT The interaction between the tetratricopeptide repeat (TPR)-containing subunit of TFIIIC, TFIIIC131, and the TFIIB-related factor Brf1 represents a limiting step in the assembly of the RNA polymerase III (pol III) initiation factor TFIIIB. This assembly reaction is facilitated by dominant mutations that map in and around TPR2. Structural modeling of TPR1 to TPR3 from TFIIIC131 shows that one such mutation, PCF1-2, alters a residue in the ligand-binding groove of the TPR superhelix whereas another mutation, PCF1-1, changes a surface-accessible residue on the back side of the TPR superhe

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INVERNIZZI, Cédric, Jonathan IMHOF, Gabriela BURKARD, Katharina SCHMID, and Arminio BOSCHETTI. "Effects of mutations at the two processing sites of the precursor for the small subunit of ribulose-bisphosphate carboxylase in Chlamydomonas reinhardtii." Biochemical Journal 366, no. 3 (2002): 989–98. http://dx.doi.org/10.1042/bj20020378.

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The role of the two processing sites in the precursor of the small subunit (SS) of ribulose-1,5-bisphosphate carboxylase/oxygenase (pSS) of Chlamydomonas reinhardtii was studied by introducing mutations at the cleavage sites for the stromal processing peptidases SPP-1 and SPP-2, which hydrolyse wild-type pSS (20.6kDa) to an intermediate-sized product iSS (18.3kDa) and to the mature SS (16.3kDa), respectively. The mutations introduced into cDNA resulted in exchange of (a) two amino acids flanking processing site 1, or (b) one or (c) both amino acids flanking processing site 2. Mutation (a) prev

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Puranen, T. J., M. H. Poutanen, H. E. Peltoketo, P. T. Vihko та R. K. Vihko. "Site-directed mutagenesis of the putative active site of human 17β-hydroxysteroid dehydrogenase type 1". Biochemical Journal 304, № 1 (1994): 289–93. http://dx.doi.org/10.1042/bj3040289.

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Several amino acid residues (Cys54, Tyr155, His210, His213 and His221) at a putative catalytic site of human 17 beta-hydroxysteroid dehydrogenase type 1 were mutated to Ala. Replacement of His221 by Ala remarkably reduced the catalytic activity, which resulted from a change of both the Km and the Vmax. values of the enzyme. Compared with the wild-type enzyme, the catalytic efficiency of the His221-->Ala mutant was reduced 20-fold for the oxidative reaction and 11-fold for the reductive reaction. With similar mutations at His210 or His213, no notable effects on the catalytic properties of th

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Russo, Antonio, Viviana Bazan, Barry Iacopetta, David Kerr, Thierry Soussi, and Nicola Gebbia. "The TP53 Colorectal Cancer International Collaborative Study on the Prognostic and Predictive Significance of p53 Mutation: Influence of Tumor Site, Type of Mutation, and Adjuvant Treatment." Journal of Clinical Oncology 23, no. 30 (2005): 7518–28. http://dx.doi.org/10.1200/jco.2005.00.471.

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Purpose The aims of the TP53 Colorectal Cancer (CRC) International Collaborative Study were to evaluate the possible associations between specific TP53 mutations and tumor site, and to evaluate the prognostic and predictive significance of these mutations in different site, stage, and treatment subgroups. Patients and Methods A total of 3,583 CRC patients from 25 different research groups in 17 countries were recruited to the study. Patients were divided into three groups according to site of the primary tumor. TP53 mutational analyses spanned exons 4 to 8. Results TP53 mutations were found in

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Ichikawa, Shoji, Kenneth W. Lyles, and Michael J. Econs. "A Novel GALNT3 Mutation in a Pseudoautosomal Dominant Form of Tumoral Calcinosis: Evidence That the Disorder Is Autosomal Recessive." Journal of Clinical Endocrinology & Metabolism 90, no. 4 (2005): 2420–23. http://dx.doi.org/10.1210/jc.2004-2302.

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Abstract Familial tumoral calcinosis is a rare metabolic disorder, characterized by ectopic calcification and hyperphosphatemia. Recently biallelic mutations in the GalNAc transferase 3 (GALNT3) gene were identified in two families with tumoral calcinosis. In the present study, we performed mutation analysis of the GALNT3 gene in a multigenerational family, which was originally described to have an autosomal dominant form of tumoral calcinosis. We identified a novel splice site mutation in intron 1 (IVS1–2a→t), likely leading to skipping of exon 2. The proband was a compound heterozygote for t

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Rodriguez, Cesar, Joshua Tompkin, Jill Hazel, and Patricia L. Foster. "Induction of a DNA Nickase in the Presence of Its Target Site Stimulates Adaptive Mutation in Escherichia coli." Journal of Bacteriology 184, no. 20 (2002): 5599–608. http://dx.doi.org/10.1128/jb.184.20.5599-5608.2002.

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ABSTRACT Adaptive mutation to Lac+ in Escherichia coli strain FC40 depends on recombination functions and is enhanced by the expression of conjugal functions. To test the hypothesis that the conjugal function that is important for adaptive mutation is the production of a single-strand nick at the conjugal origin, we supplied an exogenous nicking enzyme, the gene II protein (gIIp) of bacteriophage f1, and placed its target sequence near the lac allele. When both gIIp and its target site were present, adaptive mutation was stimulated three- to fourfold. Like normal adaptive mutations, gIIp-induc

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Joerger, Andreas C., Hwee Ching Ang, Dmitry B. Veprintsev, Caroline M. Blair, and Alan R. Fersht. "Structures of p53 Cancer Mutants and Mechanism of Rescue by Second-site Suppressor Mutations." Journal of Biological Chemistry 280, no. 16 (2005): 16030–37. http://dx.doi.org/10.1074/jbc.m500179200.

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We have solved the crystal structures of three oncogenic mutants of the core domain of the human tumor suppressor p53. The mutations were introduced into a stabilized variant. The cancer hot spot mutation R273H simply removes an arginine involved in DNA binding without causing structural distortions in neighboring residues. In contrast, the “structural” oncogenic mutations H168R and R249S induce substantial structural perturbation around the mutation site in the L2 and L3 loops, respectively. H168R is a specific intragenic suppressor mutation for R249S. When both cancer mutations are combined

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Van Kuilenburg, André B. P., Rutger Meinsma, Eva Beke, et al. "Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function." Biological Chemistry 386, no. 4 (2005): 319–24. http://dx.doi.org/10.1515/bc.2005.038.

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AbstractDihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of the pyrimidine bases uracil and thymine, as well as of the widely used chemotherapeutic drug 5-fluorouracil (5FU). Analysis of the DPD gene (DPYD) in two patients presenting with complete DPD deficiency and the parents of an affected child showed the presence of three novel mutations, including one splice site mutation IVS11+1G→T and the missense mutations 731A→C (E244V) and 1651G→A (A551T). The G→T mutation in the invariant GT splice donor site flanking exon 11 (IVS11+1G→T) created a cry

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Turner, Jeremy J. O., Poloko D. Leotlela, Anna A. J. Pannett, et al. "Frequent Occurrence of an Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1." Journal of Clinical Endocrinology & Metabolism 87, no. 6 (2002): 2688–93. http://dx.doi.org/10.1210/jcem.87.6.8607.

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MEN1 is an autosomal dominant disorder characterized by parathyroid, pituitary, and pancreatic tumors. The MEN1 gene is located on chromosome 11q13 and encodes a 610-amino acid protein. MEN1 mutations are of diverse types and are scattered throughout the coding region, such that almost every MEN1 family will have its individual mutation. To further characterize such mutations we ascertained 34 unrelated MEN1 probands and undertook DNA sequence analysis. This identified 17 different mutations in 24 probands (2 nonsense, 2 missense, 2 in-frame deletions, 5 frameshift deletions, 1 frameshift dele

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Amano, Eiichiro, Tomokatsu Yoshida, Ikuko Mizuta, et al. "Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease." Neurology Genetics 7, no. 6 (2021): e626. http://dx.doi.org/10.1212/nxg.0000000000000626.

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Background and ObjectiveAlexander disease (ALXDRD) is an autosomal dominant neurologic disorder caused by mutations in the glial fibrillary acidic protein (GFAP) gene and is pathologically defined by Rosenthal fiber accumulation. Most mutations are exonic missense mutations, and splice site mutations are rare. We report a very-late-onset autopsied case of adult-onset ALXDRD with a novel splice site mutation.MethodsGenetic testing of GFAP was performed by Sanger sequencing. Using autopsied brain tissues, GFAP transcript analysis was performed.ResultsThe patient presented mild upper motor neuron

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Martyn, Gabriella E., Beeke Wienert, Ryo Kurita, Yukio Nakamura, Kate G. R. Quinlan, and Merlin Crossley. "A natural regulatory mutation in the proximal promoter elevates fetal globin expression by creating a de novo GATA1 site." Blood 133, no. 8 (2019): 852–56. http://dx.doi.org/10.1182/blood-2018-07-863951.

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Abstract β-hemoglobinopathies, such as sickle cell disease and β-thalassemia, result from mutations in the adult β-globin gene. Reactivating the developmentally silenced fetal γ-globin gene elevates fetal hemoglobin levels and ameliorates symptoms of β-hemoglobinopathies. The continued expression of fetal γ-globin into adulthood occurs naturally in a genetic condition termed hereditary persistence of fetal hemoglobin (HPFH). Point mutations in the fetal γ-globin proximal promoter can cause HPFH. The −113A&gt;G HPFH mutation falls within the −115 cluster of HPFH mutations, a binding site fo

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Vora, Hemangini H., Shalvi V. Mehta, Shilin N. Shukla, and Pankaj M. Shah. "No Mutation Detected in Five Hot Spot Codons of the Tp53 Gene by Restriction Site Mutation Analysis in Patients with Carcinoma of the Tongue." International Journal of Biological Markers 25, no. 1 (2010): 46–51. http://dx.doi.org/10.1177/172460081002500107.

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The present study evaluated 5 of the 8 main TP53 mutation hot spots in cancer by restriction site mutation analysis and compared the results with p53 protein expression in patients with cancer of the tongue. Tumor samples from 49 patients with tongue cancer were screened for TP53 mutations in exons 5 through 8 by PCR restriction site mutation analysis and for p53 protein expression by immunohistochemistry using the DO-7 antibody. Nuclear accumulation of p53 protein was seen in 22% (11/49) of the tumors, whereas none of the patients exhibited TP53 mutations in exons 5 through 8. The observed da

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Jenkins, Gareth J. S., Morteza Hashemzadeh Chaleshtori, Honglin Song, and James M. Parry. "Mutation analysis using the restriction site mutation (RSM) assay." Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 405, no. 2 (1998): 209–20. http://dx.doi.org/10.1016/s0027-5107(98)00138-9.

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Riedmayr, Lisa M., Sybille Böhm, Martin Biel, and Elvir Becirovic. "Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site." Human Molecular Genetics 29, no. 2 (2019): 295–304. http://dx.doi.org/10.1093/hmg/ddz291.

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Abstract The c.620 T &gt; G mutation in rhodopsin found in the first mapped autosomal dominant retinitis pigmentosa (adRP) locus is associated with severe, early-onset RP. Intriguingly, another mutation affecting the same nucleotide (c.620 T &gt; A) is related to a mild, late-onset RP. Assuming that both mutations are missense mutations (Met207Arg and Met207Lys) hampering the ligand-binding pocket, previous work addressed how they might differentially impair rhodopsin function. Here, we investigated the impact of both mutations at the mRNA and protein level in HEK293 cells and in the m

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Mandl, Christian W., Steven L. Allison, Heidemarie Holzmann, Tamara Meixner, and Franz X. Heinz. "Attenuation of Tick-Borne Encephalitis Virus by Structure-Based Site-Specific Mutagenesis of a Putative Flavivirus Receptor Binding Site." Journal of Virology 74, no. 20 (2000): 9601–9. http://dx.doi.org/10.1128/jvi.74.20.9601-9609.2000.

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ABSTRACT The impact of a specific region of the envelope protein E of tick-borne encephalitis (TBE) virus on the biology of this virus was investigated by a site-directed mutagenesis approach. The four amino acid residues that were analyzed in detail (E308 to E311) are located on the upper-lateral surface of domain III according to the X-ray structure of the TBE virus protein E and are part of an area that is considered to be a potential receptor binding determinant of flaviviruses. Mutants containing single amino acid substitutions, as well as combinations of mutations, were constructed and a

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Davis, Brad H., Art F. Y. Poon, and Michael C. Whitlock. "Compensatory mutations are repeatable and clustered within proteins." Proceedings of the Royal Society B: Biological Sciences 276, no. 1663 (2009): 1823–27. http://dx.doi.org/10.1098/rspb.2008.1846.

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Compensatory mutations improve fitness in genotypes that contain deleterious mutations but have no beneficial effects otherwise. As such, compensatory mutations represent a very specific form of epistasis. We show that intragenic compensatory mutations occur non-randomly over gene sequence. Compensatory mutations are more likely to appear at some sites than others. Moreover, the sites of compensatory mutations are more likely than expected by chance to be near the site of the original deleterious mutation. Furthermore, compensatory mutations tend to occur more commonly in certain regions of th

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Ramadhan, Dwi Syah Fitra, and Daryono H. Tjahjono. "Prediksi dan Identifikasi Struktur Protein EGFR Kanker Paru dengan Mutasi Titik L718Q/T790M Secara Pemodelan Homologi In Silico." Jurnal Sains dan Kesehatan 2, no. 4 (2020): 491–96. http://dx.doi.org/10.25026/jsk.v2i4.257.

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EGFR receptors play an important role in the growth of cancer cells, and these receptors have undergone various types of mutations. At this time, the effect of the L718Q / T790M point mutation on the EGFR receptor is not known, therefore the aim of this study is to predict the EGFR structure with the L718Q / T790M point mutation using in silico homology modeling. The mutant protein was successfully modeled using SWISS-Model expasy webserver and showed good evaluation results after the protein was minimized as indicated by the results of the Ramachandran outlier score of 0%, clashscore 0.98, an

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Elliott, Steve, Tony Lorenzini, David Chang, Jack Barzilay, and Evelyne Delorme. "Mapping of the Active Site of Recombinant Human Erythropoietin." Blood 89, no. 2 (1997): 493–502. http://dx.doi.org/10.1182/blood.v89.2.493.

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Abstract Recombinant human erythropoietin (rHuEPO) variants have been constructed to identify amino acid residues important for biological activity. Immunoassays were used to determine the effect of each mutation on rHuEPO folding. With this strategy, we could distinguish between mutations that affected bioactivity directly and those that affected bioactivity because the mutation altered rHuEPO conformation. Four regions were found to be important for bioactivity: amino acids 11 to 15, 44 to 51, 100 to 108, and 147 to 151. EPO variants could be divided into two groups according to the differen

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Yun, Jiwon, Jung-Ah Kim, Byungjin Hwang, et al. "Triple-Negative Myeloproliferative Neoplasms Vs. Calr, JAK2 or MPL-Mutated Myeloproliferative Neoplasms: Distinct Molecular Characteristics." Blood 132, Supplement 1 (2018): 1772. http://dx.doi.org/10.1182/blood-2018-99-118013.

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Abstract Background: We compared the clinical, cytogenetic, molecular features, and telomere lengths of patients with triple negative MPN and MPN with any of CALR, JAK2 or MPL mutations. Methods: Target capture sequencing of 87 genes and molecular cytogenetic studies were performed in 61 Korean patients with MPN. Also, we searched the newly reported mutations and novel mutations in triple negative MPN [JAK2-G335D (germline), JAK2-F556V, JAK2-G571S (germline), JAK2-V625F (germline), MPL-T119I, MPL-S204F/P, MPL-E230G, MPL-V285E (germline), MPL-R321W (germline), MPL-Y591D, MPL-S505N and MPL-W515R

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Hall, Michael J., Michelle J. McSweeny, Kim Rainey, Hannah Campbell, Chau Nguyen, and Catherine Neumann. "Risks and implications of multiple actionable pathogenic germline variants discovered by panel-based cancer predisposition testing." Journal of Clinical Oncology 41, no. 4_suppl (2023): 792. http://dx.doi.org/10.1200/jco.2023.41.4_suppl.792.

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792 Background: Multi-gene hereditary cancer panels have revolutionized how patients with germline mutations are identified by testing multiple genes at the same time. Despite the availability of panel testing, many patients with a known familial mutation will only undergo single site genetic testing due to limitations in guideline recommendations and insurance coverage. This approach risks a failure to detect additional pathogenic variants and an inappropriate management of cancer risk. In our clinical experience, a subset of patients pursue multigene testing despite a known familial mutation

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Zhou, Rong-Fu, Zhou Na, and OuYang Jian. "Studies on the Genetic Mutations of Hereditary Fibrinogen Disorder." Blood 128, no. 22 (2016): 4954. http://dx.doi.org/10.1182/blood.v128.22.4954.4954.

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Abstract Hereditary fibrinogen disorder is a rare kind of bleeding disease, which divided into two types. Type I is a kind of quantity disorder, including afibrinogenemia and hypofibrinogenemia. Type II is a kind of quality disorder, including dysfibrinogenemia. Fibrinogen is a kind of hexameric glycoprotein and consists of two pairs of three chains, which are Aα, Bβ and γchain. FGA、FGB and FGG code for the relevant glycoprotein. The mutations on these genes are responsible for this disorder. In this study, the levels of fibrinogen antigen of 12 cases with low fibrinogen activity were firstly

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Koenig, Patrick, Chingwei V. Lee, Benjamin T. Walters, et al. "Mutational landscape of antibody variable domains reveals a switch modulating the interdomain conformational dynamics and antigen binding." Proceedings of the National Academy of Sciences 114, no. 4 (2017): E486—E495. http://dx.doi.org/10.1073/pnas.1613231114.

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Somatic mutations within the antibody variable domains are critical to the immense capacity of the immune repertoire. Here, via a deep mutational scan, we dissect how mutations at all positions of the variable domains of a high-affinity anti-VEGF antibody G6.31 impact its antigen-binding function. The resulting mutational landscape demonstrates that large portions of antibody variable domain positions are open to mutation, and that beneficial mutations can be found throughout the variable domains. We determine the role of one antigen-distal light chain position 83, demonstrating that mutation

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Chang, JG, PH Chen, SS Chiou, LS Lee, LI Perng, and TC Liu. "Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites." Blood 80, no. 8 (1992): 2092–96. http://dx.doi.org/10.1182/blood.v80.8.2092.2092.

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Abstract We developed a rapid and simple method to diagnose the molecular defects of beta-thalassemia in Chinese patients. This method involves the selective amplification of a DNA fragment from human beta globin gene with specific oligonucleotide primers, followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites. To detect the 4-nucleotide deletion of codon 41–42, we introduced a single mismatch nucleotide into the 3′ end of the upstream primer to create an artificial Taq I restriction site. With a similar approach, an artifici

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47

Chang, JG, PH Chen, SS Chiou, LS Lee, LI Perng, and TC Liu. "Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites." Blood 80, no. 8 (1992): 2092–96. http://dx.doi.org/10.1182/blood.v80.8.2092.bloodjournal8082092.

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We developed a rapid and simple method to diagnose the molecular defects of beta-thalassemia in Chinese patients. This method involves the selective amplification of a DNA fragment from human beta globin gene with specific oligonucleotide primers, followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites. To detect the 4-nucleotide deletion of codon 41–42, we introduced a single mismatch nucleotide into the 3′ end of the upstream primer to create an artificial Taq I restriction site. With a similar approach, an artificial Rsa I

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48

Misawa, Kazuharu, and Fumio Tajima. "Estimation of the Amount of DNA Polymorphism When the Neutral Mutation Rate Varies Among Sites." Genetics 147, no. 4 (1997): 1959–64. http://dx.doi.org/10.1093/genetics/147.4.1959.

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Abstract Knowing the amount of DNA polymorphism is essential to understand the mechanism of maintaining DNA polymorphism in a natural population. The amount of DNA polymorphism can be measured by the average number of nucleotide differences per site (π), the proportion of segregating (polymorphic) site (s) and the minimum number of mutations per site (s*). Since the latter two quantities depend on the sample size, θ is often used as a measure of the amount of DNA polymorphism, where θ = 4Nμ, N is the effective population size and μ is the neutral mutation rate per site per generation. It is kn

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49

Krone, Nils, Andreas Braun, Adelbert Anton Roscher, Dietrich Knorr, and Hans Peter Schwarz. "Predicting Phenotype in Steroid 21-Hydroxylase Deficiency? Comprehensive Genotyping in 155 Unrelated, Well Defined Patients from Southern Germany." Journal of Clinical Endocrinology & Metabolism 85, no. 3 (2000): 1059–65. http://dx.doi.org/10.1210/jcem.85.3.6441.

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Abstract Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders. CAH is most often caused by deficiency of steroid 21-hydroxylase. The frequency of CYP21-inactivating mutations and the genotype-phenotype relationship were characterized in 155 well defined unrelated CAH patients. We were able to elucidate 306 of 310 disease-causing alleles (diagnostic sensitivity, 98.7%). The most frequent mutation was the intron 2 splice site mutation (30.3%), followed by gene deletions (20.3%), the I172N mutation (19.7%) and large gene conversions (7.1%). Five point mutations were de

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SKURAT, Alexander V., and Peter J. ROACH. "Multiple mechanisms for the phosphorylation of C-terminal regulatory sites in rabbit muscle glycogen synthase expressed in COS cells." Biochemical Journal 313, no. 1 (1996): 45–50. http://dx.doi.org/10.1042/bj3130045.

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Glycogen synthase can be inactivated by sequential phosphorylation at the C-terminal residues Ser652 (site 4), Ser648 (site 3c), Ser644 (site 3b) and Ser640 (site 3a) catalysed by glycogen synthase kinase-3. In vitro, glycogen synthase kinase-3 action requires that glycogen synthase has first been phosphorylated at Ser656 (site 5) by casein kinase II. Recently we demonstrated that inactivation is linked only to phosphorylation at site 3a and site 3b, and that, in COS cells, modification of these sites can occur by alternative mechanisms independent of any C-terminal phosphorylations [Skurat an

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